Variant report

Variant	nsv5309
Chromosome Location	chr6:54834971-54855729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 507 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575203139	chr6:54835017-54835018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551590741	chr6:54835052-54835053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3105249	chr6:54835086-54835087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537392734	chr6:54835141-54835142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184025069	chr6:54835146-54835147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4715492	chr6:54835178-54835179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79232506	chr6:54835184-54835185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9382404	chr6:54835218-54835219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77679238	chr6:54835239-54835240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192372975	chr6:54835247-54835248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558836504	chr6:54835295-54835296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371068719	chr6:54835308-54835309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374339116	chr6:54835309-54835310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575563023	chr6:54835310-54835311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367704258	chr6:54835311-54835312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374695470	chr6:54835313-54835314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202112180	chr6:54835316-54835317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377470184	chr6:54835317-54835318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554513669	chr6:54835321-54835322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372168521	chr6:54835324-54835325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370431704	chr6:54835327-54835328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182084365	chr6:54835335-54835336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200903265	chr6:54835337-54835338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77925727	chr6:54835338-54835339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574369459	chr6:54835353-54835354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540248659	chr6:54835373-54835374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142152550	chr6:54835450-54835451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7764641	chr6:54835469-54835470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146348371	chr6:54835566-54835567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7765236	chr6:54835567-54835568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531196312	chr6:54835599-54835600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551008229	chr6:54835722-54835723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186767676	chr6:54835774-54835775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530021911	chr6:54835837-54835838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34202476	chr6:54835855-54835856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566968593	chr6:54835866-54835867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148434932	chr6:54835878-54835879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558744500	chr6:54835879-54835880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568971083	chr6:54835880-54835881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55644513	chr6:54835894-54835895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142543752	chr6:54835895-54835896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374837396	chr6:54835903-54835904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6914222	chr6:54835926-54835927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539834385	chr6:54835935-54835936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139476952	chr6:54835941-54835942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116021494	chr6:54835958-54835959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545504898	chr6:54836001-54836002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565104941	chr6:54836064-54836065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191584550	chr6:54836075-54836076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544819359	chr6:54836135-54836136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54835000-54835600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:54835000-54835600	Enhancers	Hela-S3	cervix
3	chr6:54835000-54835800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:54835000-54836000	Enhancers	NHEK	skin
5	chr6:54835600-54836400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:54835800-54836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:54836000-54836400	Weak transcription	NHEK	skin
8	chr6:54836400-54836600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:54836400-54837000	Enhancers	NHEK	skin
10	chr6:54836800-54837000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:54845000-54847000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:54845400-54846000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:54845400-54846600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:54845400-54847200	Enhancers	HMEC	breast
15	chr6:54845400-54847200	Enhancers	NHEK	skin
16	chr6:54845600-54846200	Enhancers	Hela-S3	cervix
17	chr6:54845600-54846800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:54845600-54846800	Enhancers	NHLF	lung
19	chr6:54845600-54847000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:54845800-54847000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:54845800-54847000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:54846000-54846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:54846400-54846800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:54846400-54847000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:54846600-54847000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:54847000-54847400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:54847000-54854800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:54847000-54856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:54847200-54847600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:54847200-54847600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:54847600-54848000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:54847600-54848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:54852600-54853000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:54852600-54855000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:54852800-54853200	Enhancers	Stomach Mucosa	stomach
36	chr6:54852800-54853400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr6:54852800-54854000	Enhancers	Fetal Intestine Small	intestine
38	chr6:54853000-54857000	Weak transcription	HMEC	breast
39	chr6:54853200-54854600	Weak transcription	Stomach Mucosa	stomach
40	chr6:54853400-54858400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:54853800-54854400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:54854000-54856400	Weak transcription	Fetal Intestine Small	intestine
43	chr6:54854800-54855000	Enhancers	Stomach Mucosa	stomach
44	chr6:54854800-54855200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:54855000-54855400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:54855000-54855400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:54855400-54855800	Enhancers	Pancreatic Islets	Pancreatic Islet

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